International Angelman Day

Every year on February 15th, International Angelman Day raises the alarm of a rare neuro-genetic disorder called Angelman syndrome. The day also helps us better understand this illness and the need for more research.

1 in 12,000 to 20,000 people around the world have Angelman syndrome. This rare condition occurs when the UBE3A gene in the 15th chromosome loses function. This particular chromosome is derived from the mother. The majority of diagnoses occur between the ages of 6 to 12 months. The signs of illness are most apparent during these years.

Angelman syndrome has several signs in common::: The following are common signs of Angelman syndrome:

Delay in developmental milestones Delay in developmental milestones
Limited speech
Unprovoked laughter and joking have been accompanied by smiling and joking
Hyperactivity
Short attention span
Sleep deficiency or needing less sleep is a problem
Limited mobility

These signs can vary from child to child. Some children with Angelman syndrome have seizures, while others have reduced muscle tone or exaggerated reflex responses, according to some. In addition, many babies have feeding difficulties and swallowing difficulties. The signs are similar to cerebral palsy, autism, and Prader-Willi syndrome. Many children with Angelman Syndrome have a misdiagnosis due to these similarities. As one gets older, Angelman syndrome's signs get more apparent. However, those with this rare disease require life-long care.

Dr. Harry Angelman, an English physician, discovered the condition in 1965 and published a research paper that first described children with symptoms. Many physicians were skeptical about its existence because it was so unusual. Dr. Angelman coined the condition "Happy Puppet Syndrome" due to the unprovoked smiling of laughter of children with the disease.

Dr. Charles Williams discovered that the disease was more prevalent than previously thought in 1982. He, along with Dr. Jaime Frias, suggested that the condition be renamed Angelman syndrome. Dr. Williams founded the Angelman Research Group (ARG), which later became the Angelman Syndrome Foundation.

How to celebrate #internationalangelmanday

This day, the events on this day are focused on raising funds for Angelman syndrome and hosting fundraisers, as well as supporting research. It's also a day to honor those with Angelman syndrome who are no longer with us. To participate: To participate: To participate: To participate: You must register:

Donate to an organization that funds Angelman syndrome research
If you, or a loved one, has been diagnosed with Angelman syndrome, please share your story with others
Watch the film "Lou" which depicts a day in the life of a young man with Angelman syndrome
Become involved in a fundraiser in your neighborhood or create one yourself

#InternationalAngelmanDay or #WhatIsAngelmanDay are both popular on social media.